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Description clinique et analyse de corrélation phénotype/génotype dans une cohorte de patients atteints d’une déficience intellectuelle liée à des mutations du gène PAK3
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In: 10èmes Assises de Génétique Humaine et Médicale ; https://hal.archives-ouvertes.fr/hal-02436525 ; 10èmes Assises de Génétique Humaine et Médicale, Jan 2020, Tours, France (2020)
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Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
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In: ISSN: 0022-2593 ; EISSN: 1468-6244 ; Journal of Medical Genetics ; https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02064139 ; Journal of Medical Genetics, BMJ Publishing Group, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩ ; https://jmg.bmj.com/content/55/6/359.long (2018)
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Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability
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In: ISSN: 0022-3476 ; Journal of Pediatrics ; https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01560200 ; Journal of Pediatrics, Elsevier, 2017, 185, pp.160 - 166.e1. ⟨10.1016/j.jpeds.2017.02.023⟩ ; http://www.sciencedirect.com/science/article/pii/S0022347617302214 (2017)
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12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech
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Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype
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In: ISSN: 1932-6203 ; EISSN: 1932-6203 ; PLoS ONE ; https://hal.archives-ouvertes.fr/hal-01439710 ; PLoS ONE, Public Library of Science, 2012, 7 (3), ⟨10.1371/journal.pone.0030778⟩ (2012)
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